A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv538n54



Internal ID22768433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143538619..143707338hg38UCSC Ensembl
chr1:149029447..149201987hg19UCSC Ensembl
chr1:147296071..147468611hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38168720
hg19172541
hg18172541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547710, nsv547722, nsv547768, nsv547725, nsv547735, nsv547770, nsv547759, nsv547772, nsv547711, nsv547723, nsv547771, nsv547742, nsv547744, nsv547762, nsv547740, nsv547743, nsv547776, nsv547709, nsv547707, nsv547745, nsv547769, nsv547689, nsv547755, nsv547741, nsv547730, nsv547754, nsv547724, nsv547731
SamplesHGDP00768, HGDP01375, HGDP00612, HGDP00458, HGDP00033, HGDP00718, HGDP00530, HGDP00615, HGDP00007, HGDP00983
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv538n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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